p.Gly10 Arg15del variant of PINK1 (Q9BXM7)
p.Gly10 Arg15del in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly10 Arg15del variant details
- gnomAD 1-20633572-CCGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available